Associated Papers
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Slezak R et al.
Genes, 2021
33921653 (PubMed )
Supplement: genes-12-00594-s001.zip › genes-1145756-supplementary.pdf
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
Naseer MI et al.
Pakistan Journal of Medical Sciences, 2019
The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.
Shohayeb B et al.
Molecular Neurobiology, 2018
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
McDonell LM et al.
Bmc Neurology, 2014
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Naseer MI et al.
Annals of Saudi Medicine, 0
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